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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

409 related items for PubMed ID: 25900314

  • 21.
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  • 22. Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome.
    König A, Happle R, Bornholdt D, Engel H, Grzeschik KH.
    Am J Med Genet; 2000 Feb 14; 90(4):339-46. PubMed ID: 10710235
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  • 26. Delineation of the KIAA2022 mutation phenotype: two patients with X-linked intellectual disability and distinctive features.
    Kuroda Y, Ohashi I, Naruto T, Ida K, Enomoto Y, Saito T, Nagai J, Wada T, Kurosawa K.
    Am J Med Genet A; 2015 Jun 14; 167(6):1349-53. PubMed ID: 25900396
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  • 27. Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations.
    Basel-Vanagaite L, Yilmaz R, Tang S, Reuter MS, Rahner N, Grange DK, Mortenson M, Koty P, Feenstra H, Farwell Gonzalez KD, Sticht H, Boddaert N, Désir J, Anyane-Yeboa K, Zweier C, Reis A, Kubisch C, Jewett T, Zeng W, Borck G.
    Hum Genet; 2014 Jul 14; 133(7):939-49. PubMed ID: 24615390
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  • 30. [Advance in research on congenital hemidysplasia with ichthyosiform nevus and limb defects syndrome].
    Jing F, Yang D, Chen T, Liang L.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Dec 10; 33(6):878-882. PubMed ID: 27984627
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  • 31.
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  • 32. Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.
    Kolanczyk M, Krawitz P, Hecht J, Hupalowska A, Miaczynska M, Marschner K, Schlack C, Emmerich D, Kobus K, Kornak U, Robinson PN, Plecko B, Grangl G, Uhrig S, Mundlos S, Horn D.
    Eur J Hum Genet; 2015 May 10; 23(5):633-8. PubMed ID: 24916641
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  • 33.
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  • 34. A novel silent mutation in the NSDHL gene causing CHILD syndrome as a result of aberrant splicing.
    Saito M, Ishiko A.
    Br J Dermatol; 2008 Nov 10; 159(5):1204-6. PubMed ID: 18764845
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  • 35. CHILD syndrome in 3 generations: the importance of mild or minimal skin lesions.
    Bittar M, Happle R, Grzeschik KH, Leveleki L, Hertl M, Bornholdt D, König A.
    Arch Dermatol; 2006 Mar 10; 142(3):348-51. PubMed ID: 16549711
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  • 36. Etiological identification of recurrent male fatality due to a novel NSDHL gene mutation using trio whole-exome sequencing: A rare case report and literature review.
    Zhuang J, Luo Q, Xie M, Chen Y, Jiang Y, Zeng S, Wang Y, Xie Y, Chen C.
    Mol Genet Genomic Med; 2023 Mar 10; 11(3):e2121. PubMed ID: 36504312
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  • 37. A missense variant in the NSDHL gene in a Chihuahua with a congenital cornification disorder resembling inflammatory linear verrucous epidermal nevi.
    Leuthard F, Lehner G, Jagannathan V, Leeb T, Welle M.
    Anim Genet; 2019 Dec 10; 50(6):768-771. PubMed ID: 31571289
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  • 40. Mutational spectrum of NSDHL in CHILD syndrome.
    Bornholdt D, König A, Happle R, Leveleki L, Bittar M, Danarti R, Vahlquist A, Tilgen W, Reinhold U, Poiares Baptista A, Grosshans E, Vabres P, Niiyama S, Sasaoka K, Tanaka T, Meiss AL, Treadwell PA, Lambert D, Camacho F, Grzeschik KH.
    J Med Genet; 2005 Feb 10; 42(2):e17. PubMed ID: 15689440
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